Haplotypes | I | II | III | IV | V | VI | VII | VIII | IX | |||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Patients | 2 | 1 | 5 | 6 | 7 | 4 | 8 | 3 | 10 | 15 | 16 | 9 | 11 | 12 | 13 | 14 | 17 | 18 | 19 | 20 | ||
C4 | Sb1 | 6.4 | 7 | 7 | 7 | 7 | 7 | 7 | 7 | 7 | 7 | 7 | 7 | 7 | 7 | 7 | 7 | 7 | 7 | 7 | 7 | |
MLPA2 | B/A | A/B | A/B | A/B | A/B | A | A | A | A | A | A | A | A | A | A | A | A | A | A | A | ||
CYP21A1P/A2 | 5' | RB3 | 6/8 | 6/8 | 6/8 | 6/8 | 6/8 | 3'end | 3'end | 3/4 | 3/4 | 3/4 | 3/4 | 3/4 | 3/4 | 3/4 | 3/4 | 3/4 | 3/4 | 1/3 | 1/3 | 1/3 |
-4494 | A | A | A | A | A | A | - | A | A | A | A | A | A | - | G | G | G | A | A | A | ||
-3085 | C | C | C | C | C | C | - | G | G | G | G | C | C | - | C | C | C | C | C | C | ||
-2896 | C | T | T | T | T | T | - | T | T | T | T | T | T | - | T | T | T | T | T | T | ||
-47 | T | C | C | C | C | T | T | C | C | C | C | T | T | T | T | T | T | T | T | T | ||
E1 | p.P30L8 | T | T | T | T | T | T | T | C | C | C | C | - | T | T | T | - | T | T | T | T | |
p.P34L9 | C | C | C | C | C | C | C | T | T | T | T | - | C | C | C | - | C | C | C | C | ||
p.H62L10 | A | A | A | A | A | A | A | T | T | T | T | - | A | A | A | A | A | A | A | A | ||
I2 | 39511 | T | C | C | C | C | T | T | C | C | C | C | C | C | C | T | T | T | C | C | C | |
41912 | - | - | - | - | - | C | C | C | C | C | C | C | C | C | C | C | C | C | C | A | ||
54713 | - | - | A | - | - | A | A | A | A | - | A | A | A | A | A | - | A | A | A | C | ||
560_566insG14 | - | 6Gs | 6Gs | - | 6Gs | 6Gs | 6Gs | 6Gs | 6Gs | - | 6Gs | 6Gs | 6Gs | 6Gs | 6Gs | - | 6Gs | 6Gs | 6Gs | 7Gs | ||
60215 | A | A | A | A | A | A | A | A | A | - | A | A | A | A | A | - | A | C | C | C | ||
E4 | p.I172N | A | A | A | A | A | A | A | T | T | T | T | T | T | T | T | T | T | T | T | T | |
I5 | 125316 | A | G | G | G | G | G | G | G | G | G | G | G | G | G | G | G | G | - | - | - | |
E7 | p.S268T17 | G | C | C | C | C | C | G | G | G | G | G | G | G | G | G | G | G | G | G | G | |
p.V281L18 | T | T | T | T | T | T | T | G | G | G | G | G | G | G | G | G | G | G | G | G | ||
E8 | p.Q318X19 | C | C | C | C | C | T | T | C | C | C | C | C | C | C | C | C | C | C | C | C | |
p.R356W20 | C | C | C | C | C | C | T | C | C | C | C | C | C | C | C | C | C | C | C | C |